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Article

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

The EMBO journal - 1 Jan 1994

Bessler M, Mason P J, Hillmen P, Miyata T, Yamada N, Takeda J, Luzzatto L, Kinoshita T

Abstract excerpt

Paroxysmal nocturnal haemoglobinuria (PNH), an acquired clonal blood disorder, is caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins due to a defect in a specific step of GPI-anchor synthesis. The cDNA of the X-linked gene, PIG-A, which encodes a protein required for this step has recently been isolated. We have carried out a molecular and functional analysis of the PIG-A gene...

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Identifiers

PMID: 8306954
DOI: 10.1002/j.1460-2075.1994.tb06240.x
PMCID: PMC394784

Genes

GPI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.PMID 8306954Read ↗

Heterogeneous PIG-A mutations in different cell lineages in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

[Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].Semantic proximity Read ↗

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Abnormalities of PIG-A Transcripts in Granulocytes from Patients with Paroxysmal Nocturnal HemoglobinuriaSemantic proximity Read ↗

Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift typeSemantic proximity Read ↗

Genotypic and phenotypic implications in paroxysmal nocturnal hemoglobinuria (PNH): a preliminary investigation.Semantic proximity Read ↗

PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.Semantic proximity Read ↗

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia.Semantic proximity Read ↗

Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

The molecular basis of paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

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